Characteristics:

OMIM:

Miscellaneous:some patients with onset of severe disease in infancy are diagnosed with leber congenital amaurosis, whereas other patients with childhood onset of less severe retinal dystrophy are diagnosed with retinitis pigmentosa

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Summaries for Leber Congenital Amaurosis 13

UniProtKB/Swiss-Prot
:76
Leber congenital amaurosis 13: A severe dystrophy of the retina, typically becoming evident in the first years of life. Visual function is usually poor and often accompanied by nystagmus, sluggish or near-absent pupillary responses, photophobia, high hyperopia and keratoconus. Retinitis pigmentosa 53: A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. RP53 inheritance is autosomal dominant or autosomal recessive.

Symptoms & Phenotypes for Leber Congenital Amaurosis 13

Human phenotypes related to Leber Congenital Amaurosis 13:

Symptoms via clinical synopsis from OMIM:

Head And Neck Eyes:attenuation of retinal arteriolesretinal dystrophy (rods and cones affected), early onsetintraretinal bone spicule pigmentationlegal blindness in early adulthood (in some patients)preservation of central vision into later adulthood (in some patients)